A rare disease, by its name implies that not many people know about it, and because it is so rare, in some instance, research isn’t as robust. Take for example two rare and difficult-to-treat blood cancers known as myelofibrosis (MF) and polycythemia vera (PV). Patients with MF have a median survival of approximately 4-7 years, and patients with PV have a median survival of 15 years, a life expectancy that is shorter than that of the average population of the same age1,2. Common debilitating symptoms associated with MF and PV may include fatigue, fever/night sweats, itchy skin and/or abdominal pain3,4. Research has played an increasingly important role in better understanding the development and mechanisms of these diseases, but it took over 100 years to get there. First discovered in the late nineteenth century, MF and PV were not thought to be related until 1951 when Dr. William Dameshek identified them as part of a group of related blood disorders known as myeloproliferative neoplasms (MPNs). It wasn’t until 2005 that researchers made the breakthrough discovery that a majority of patients with MPNs carry a specific gene mutation, spurring a burst of clinical studies that drastically evolved the management of MPNs5.
Since this discovery, researchers have taken a more individualized approach to help advance the treatment of MPNs by exploring various subtypes of advanced MF and PV. Our unparalleled efforts to transform the care of patients also extend beyond the lab bench, with the launch of the first global MPN website, http://www.spotlightonmpn.com/. Geared towards patients and healthcare professionals, we’ve created resources to help educate an underserved community, aiding them to better understand their own and their loved ones MPN, including diagnosis tools, tips for managing these diseases, as well as real patient stories and expert advice to offer a unique perspective on these rare diseases.
Each year scientists continue to break down treatment barriers for patients with unmet needs and bring innovative research to the rare disease community. This year is no exception as the American Society of Hematology (ASH) meeting marks another important milestone for those impacted by MPNs. With a wide range of data being presented, including long-term findings in MF, researchers are pushing the boundaries of science. While we are excited to be making strides, there’s still much work to be done and we are dedicated to delivering advanced solutions to help patients live longer.
Gangat N, Caramazza D, Vaidya R, et al. DIPSS-plus: A redefined Dynamic International Prognostic Scoring System (DIPSS) for primary myelofibrosis that incorporates plrognostic information from karyotype, platelet count and transfusion status. J Clin Oncol. 2011; 29:392-397.
Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27:1874-1881.